Epidermolytic Hyperkeratosis and Epidermolysis Bullosa Simplex Caused by Frameshift Mutations Altering the V2 Tail Domains of Keratin 1 and Keratin 5
- 1 April 2003
- journal article
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 120 (4) , 623-626
- https://doi.org/10.1046/j.1523-1747.2003.12084.x
Abstract
No abstract availableKeywords
This publication has 17 references indexed in Scilit:
- Pathogenesis of the Permeability Barrier Abnormality in Epidermolytic Hyperkeratosis11We dedicate this work to Professor Peter O. Fritsch in honor of his 60th birthday.Journal of Investigative Dermatology, 2001
- Expression of a Truncated Keratin 5 May Contribute to Severe Palmar–Plantar Hyperkeratosis in Epidermolysis Bullosa Simplex PatientsJournal of Investigative Dermatology, 2001
- Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis HystrixJournal of Investigative Dermatology, 2001
- A Premature Stop Codon Mutation in the 2B Helix Termination Peptide of Keratin 5 in a German Epidermolysis Bullosa Simplex Dowling–Meara CaseJournal of Investigative Dermatology, 1999
- Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlationBritish Journal of Dermatology, 1999
- A Structural Scaffolding of Intermediate Filaments in Health and DiseaseScience, 1998
- A Mutation in the V1 End Domain of Keratin 1 in Non-Epidermolytic Palmar-Plantar KeratodermaJournal of Investigative Dermatology, 1994
- The Two Size Alleles of Human Keratin 1 Are Due to a Deletion in the Glycine-Rich Carboxyl-Terminal V2 SubdomainJournal of Investigative Dermatology, 1992
- A leucine→proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosisCell, 1992
- Mutations in the Rod Domains of Keratins 1 and 10 in Epidermolytic HyperkeratosisScience, 1992